Living with Matthew-Wood syndrome
A rare genetic condition from birth with very small or missing eyes, underdeveloped lungs, a diaphragm hernia, and heart differences.
Understanding Matthew-Wood syndrome
It involves both eyes being absent (anophthalmia) or very small (microphthalmia). Many people also have underdeveloped lungs, a hernia in the diaphragm, and heart differences. Intellectual disability can occur. Other organs and facial features may also be affected. It starts in pregnancy and the newborn period.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Absent or very small eyes
- Underdeveloped lungs
- Hernia in the diaphragm
- Heart differences
- Intellectual disability
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include brain and nervous system specialists, digestive system specialists, eye disease specialists and genetic specialists.
- 3Consider genetic testing
Changes in STRA6 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Brain and nervous system specialists (neurologists); Digestive system specialists (gastroenterologists); Eye disease specialists (ophthalmologists); Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
Changes in the STRA6 gene cause this condition. GARD lists both autosomal dominant and autosomal recessive inheritance.
Also known as: anophthalmia with pulmonary hypoplasia syndrome; anophthalmia-pulmonary hypoplasia syndrome; anophthalmia, clinical, with mild facial dysmorphism and variable malformations of the lung, heart, and diaphragm; anophthalmia/microphthalmia and pulmonary hypoplasia; matthew wood syndrome; mcops9
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Matthew-Wood syndrome.
Explore research for Matthew-Wood syndrome
Explore actively recruiting Matthew-Wood syndrome studies with HealthSpark.
Find actively recruiting studies for Matthew-Wood syndrome with HealthSpark. Share your city to explore research near you.
- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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